A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv138e203



Internal ID20126363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140838209..140874533hg38UCSC Ensembl
chr5:140217794..140254118hg19UCSC Ensembl
chr5:140197978..140234302hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836325
hg1936325
hg1836325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760963, esv2763898
SamplesRW_0620, RW_0583, SW_1427, SW_0145, SW_0142, SW_1402, SW_0199, RW_0520, SW_0102, RW_0604, RW_0104, RW_0606, RW_0146, SW_0191, SW_1397, SW_1330, RW_0181, SW_1376, SW_1351, SW_0189, SW_0507, RW_0603, RW_0246, SW_0048, RW_0353, RW_0074, RW_0506, RW_0558, RW_0004, RW_0061, RW_0602, RW_0637, RW_0505, RW_0185, RW_0593, RW_0653, SW_1428, SW_1506, SW_0091, RW_0328, RW_0056, SW_1501, SW_1472, SW_1471, SW_1340, SW_0187, SW_1089, SW_1342, RW_0609, SW_0775, RW_0032, SW_0118, RW_0562, RW_0186, RW_0048, SW_1074, SW_1429, SW_1045, SW_0198, SW_0001, SW_0586, RW_0581, RW_0508, RW_0060
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv138e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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